Canonical Allele Identifier: CA8643950
Community Standard Title: NM_000023.4(SGCA):c.956+13A>G
Gene: SGCA HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000017.11:g.50170364A>G , CM000679.2:g.50170364A>G GRCh38
NC_000017.10:g.48247725A>G , CM000679.1:g.48247725A>G GRCh37
NC_000017.9:g.45602724A>G NCBI36
NG_008889.1:g.9360A>G , LRG_203:g.9360A>G

Transcript Alleles

HGVS Amino-acid Change
NM_000023.4:c.956+13A>G MANE Select NP_000014.1:n.956+13A>G
ENST00000262018.8:c.956+13A>G MANE Select ENSP00000262018.3:n.956+13A>G
NM_000023.2:c.956+13A>G , LRG_203t1:c.956+13A>G NP_000014.1:n.956+13A>G
NM_000023.3:c.956+13A>G NP_000014.1:n.956+13A>G
NM_001135697.1:c.585-276A>G NP_001129169.1:n.585-276A>G
NM_001135697.2:c.585-276A>G NP_001129169.1:n.585-276A>G
NM_001135697.3:c.585-276A>G NP_001129169.1:n.585-276A>G
NR_135553.1:n.804-276A>G
NR_135553.2:n.784-276A>G
ENST00000262018.7:c.956+13A>G ENSP00000262018.3:n.956+13A>G
ENST00000344627.10:c.585-276A>G ENSP00000345522.6:n.585-276A>G
ENST00000504073.1:c.273+13A>G
ENST00000504073.2:c.806+13A>G ENSP00000422030.2:n.806+13A>G
ENST00000511303.5:c.306-276A>G ENSP00000426104.1:n.306-276A>G
ENST00000511303.6:n.310-276A>G
ENST00000512526.1:c.420-276A>G
ENST00000512526.2:c.576-276A>G ENSP00000426606.2:n.576-276A>G
ENST00000513821.5:c.748-276A>G ENSP00000426571.1:n.748-276A>G
ENST00000513942.5:n.376-276A>G
ENST00000682109.1:c.836+13A>G ENSP00000508041.1:n.836+13A>G
ENST00000683226.1:n.1554+13A>G
ENST00000683294.1:c.*59+176A>G ENSP00000508134.1:n.*59+176A>G
ENST00000683544.1:n.335A>G
XM_011525120.1:c.956+13A>G XP_011523422.1:n.956+13A>G
XM_011525120.2:c.1118+13A>G XP_011523422.2:n.1118+13A>G
XM_011525121.1:c.806+13A>G XP_011523423.1:n.806+13A>G
XM_011525121.2:c.968+13A>G XP_011523423.2:n.968+13A>G
XM_011525122.1:c.748-276A>G XP_011523424.1:n.748-276A>G
XM_011525122.2:c.910-276A>G XP_011523424.2:n.910-276A>G
XM_011525123.1:c.585-276A>G XP_011523425.1:n.585-276A>G
XM_011525123.2:c.747-276A>G XP_011523425.2:n.747-276A>G
XM_011525124.1:c.650+13A>G XP_011523426.1:n.650+13A>G
XM_011525124.2:c.650+13A>G XP_011523426.1:n.650+13A>G
XM_024450873.1:c.650+13A>G XP_024306641.1:n.650+13A>G
XR_002958056.1:n.1553+13A>G
XR_934517.1:n.814-276A>G